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Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00005546
First Posted: May 26, 2000
Last Update Posted: May 13, 2016
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by:
National Heart, Lung, and Blood Institute (NHLBI)
May 25, 2000
May 26, 2000
May 13, 2016
January 1999
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Complete list of historical versions of study NCT00005546 on ClinicalTrials.gov Archive Site
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Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease
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To identify genes involved in the pathogenesis of three types of congenital heart disease, atrial septal defects, paramembranous ventricular septal defects, and atrioventricular canal defects.

BACKGROUND:

Congenital heart defects (CHDs) are thought to result from genetic and environmental factors that disturb cardiac embryogenesis. Because families with multiple members affected with atrial septal defects (ASDs) and atrioventricular canal defects (AVCDs) have been described in previous studies, and the paramembranous ventricular septum is in part completed by the formation of the atrioventricular cushions, this project describes a genetic-epidemiologic study of ASDs, paramembranous ventricular septal defects (VSDs), and AVCDs

DESIGN NARRATIVE:

The study is one of several subprojects within a Specialized Center of Research (SCOR) in Pediatric Cardiovascular Disease. Three groups of subjects, each with surgically- or echocardiographically-confirmed diagnoses of ASDs, VSDs or AVCDs have been identified for study at the University of Iowa Hospitals and Clinics, and at Wolfson Children's Hospital in Jacksonville, Florida. A fourth group of older subjects with ASDs and their progeny will be studied at Iowa because of the reported high recurrence of heart disease in the offspring of subjects with ASDs. The strategy calls upon the molecular genetic capacities available at the University of Iowa to carry out genome-wide searches for genetic loci involved in these defects. Several candidate regions have been identified for ASDs, VSDs and AVCDs. In addition, three well-recognized syndromes provide additional candidate regions - Down syndrome, Holt-Oram syndrome and 8p-syndrome. Parent-affected child trios will be genotyped for closely-spaced markers within these regions and linkage disequilibrium analysis will be used to narrow or exclude these candidate intervals. A genome-wide association study of the trios will employ a parsimonious technique in which DNA from cases with the same CHD phenotype will be pooled, and compared to the pooled DNA from their parents. Loci will be identified where the allele frequency distributions in the affected children and their parents are significantly different. When such loci are identified, a finer localization of the chromosomal area will be undertaken using a high-density set of short tandem repeat polymorphic markers that spans each of the candidate intervals.

The study completion date listed in this record was obtained from the "End Date" entered in the Protocol Registration and Results System (PRS) record.

Observational
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  • Cardiovascular Diseases
  • Heart Diseases
  • Defect, Congenital Heart
  • Heart Septal Defects, Ventricular
  • Heart Septal Defects, Atrial
  • Endocardial Cushion Defects
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
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December 2004
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No eligibility criteria
Sexes Eligible for Study: All
up to 100 Years   (Child, Adult, Senior)
No
Contact information is only displayed when the study is recruiting subjects
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NCT00005546
5090
P50HL062178 ( U.S. NIH Grant/Contract )
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National Heart, Lung, and Blood Institute (NHLBI)
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Investigator: Ronald Lauer University of Iowa
National Heart, Lung, and Blood Institute (NHLBI)
December 2004